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SNP ID: rs138582676
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.9:92616050 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CTCGATGAAGGGACGACAGGCCTTT[C/G]ATCAGAGCTGCAAGTAAAAAGTACC
Phenotype: MIM: 611505
Polymorphism: C/G, Transversion substitution
Allele Nomenclature
Literature Links: CENPP PubMed Links

Gene Details

Gene: CENPP
Gene Name: centromere protein P

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001012267.2	1535	Intron			NP_001012267.1
NM_001286969.1	1535	Intron			NP_001273898.1
NM_001286971.1	1535	Intron			NP_001273900.1
XM_011518685.2	1535	Intron			XP_011516987.1
XM_011518689.1	1535	Intron			XP_011516991.1
XM_017014715.1	1535	Intron			XP_016870204.1

Gene: IPPK
Gene Name: inositol-pentakisphosphate 2-kinase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_022755.5	1535	Missense Mutation	CAA,GAA	Q420E	NP_073592.1
XM_017015041.1	1535	UTR 3			XP_016870530.1

Gene: LOC100128361
Gene Name: uncharacterized LOC100128361

There are no transcripts associated with this gene.

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